Mutational analysis of COQ2 in patients with MSA in Italy

Dario Ronchi, E. Di Biase, Giulia Franco, V. Melzi, Francesca Del Sorbo, Antonio Elia, Chiara Barzaghi, Barbara Garavaglia, Christian Bergamini, R. Fato, Gabriele Mora, Roberto Del Bo, Francesco Fortunato, Linda Borellini, Ilaria Trezzi, G. Monzio Compagnoni, E. Monfrini, Emanuele Frattini, Sara Bonato, Filippo Maria CogiamanianGianluca Ardolino, Alberto Priori, Nereo Bresolin, Stefania Paola Corti, Giacomo Pietro Comi, Alessio Barnaba Di Fonzo

Research output: Contribution to journalArticle

Abstract

COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an MSA-C patient. Cosegregation analysis and the evaluation of CoQ10 content in muscle and fibroblasts did not support the pathogenic role of this variant.

Original languageEnglish
Pages (from-to)213
Number of pages1
JournalNeurobiology of Aging
Volume45
DOIs
Publication statusPublished - Sep 1 2016

Fingerprint

Multiple System Atrophy
Italy
coenzyme Q10
Genetic Testing
Sequence Analysis
Japan
Fibroblasts
Muscles
Mutation

Keywords

  • CoQ10
  • COQ2
  • MSA

ASJC Scopus subject areas

  • Neuroscience(all)
  • Medicine(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

Mutational analysis of COQ2 in patients with MSA in Italy. / Ronchi, Dario; Di Biase, E.; Franco, Giulia; Melzi, V.; Del Sorbo, Francesca; Elia, Antonio; Barzaghi, Chiara; Garavaglia, Barbara; Bergamini, Christian; Fato, R.; Mora, Gabriele; Del Bo, Roberto; Fortunato, Francesco; Borellini, Linda; Trezzi, Ilaria; Compagnoni, G. Monzio; Monfrini, E.; Frattini, Emanuele; Bonato, Sara; Cogiamanian, Filippo Maria; Ardolino, Gianluca; Priori, Alberto; Bresolin, Nereo; Corti, Stefania Paola; Comi, Giacomo Pietro; Di Fonzo, Alessio Barnaba.

In: Neurobiology of Aging, Vol. 45, 01.09.2016, p. 213.

Research output: Contribution to journalArticle

Ronchi, D, Di Biase, E, Franco, G, Melzi, V, Del Sorbo, F, Elia, A, Barzaghi, C, Garavaglia, B, Bergamini, C, Fato, R, Mora, G, Del Bo, R, Fortunato, F, Borellini, L, Trezzi, I, Compagnoni, GM, Monfrini, E, Frattini, E, Bonato, S, Cogiamanian, FM, Ardolino, G, Priori, A, Bresolin, N, Corti, SP, Comi, GP & Di Fonzo, AB 2016, 'Mutational analysis of COQ2 in patients with MSA in Italy', Neurobiology of Aging, vol. 45, pp. 213. https://doi.org/10.1016/j.neurobiolaging.2016.05.022
Ronchi, Dario ; Di Biase, E. ; Franco, Giulia ; Melzi, V. ; Del Sorbo, Francesca ; Elia, Antonio ; Barzaghi, Chiara ; Garavaglia, Barbara ; Bergamini, Christian ; Fato, R. ; Mora, Gabriele ; Del Bo, Roberto ; Fortunato, Francesco ; Borellini, Linda ; Trezzi, Ilaria ; Compagnoni, G. Monzio ; Monfrini, E. ; Frattini, Emanuele ; Bonato, Sara ; Cogiamanian, Filippo Maria ; Ardolino, Gianluca ; Priori, Alberto ; Bresolin, Nereo ; Corti, Stefania Paola ; Comi, Giacomo Pietro ; Di Fonzo, Alessio Barnaba. / Mutational analysis of COQ2 in patients with MSA in Italy. In: Neurobiology of Aging. 2016 ; Vol. 45. pp. 213.
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